Analysis of the MTHFR 1298A→C and 677C→T polymorphisms as risk factors for neural tube defects
✍ Scribed by Anne Parle-McDermott; James L. Mills; Peadar N. Kirke; Valerie B. O'Leary; Deborah A. Swanson; Faith Pangilinan; Mary Conley; Anne M. Molloy; Christopher Cox; John M. Scott; Lawrence C. Brody
- Publisher
- Nature Publishing Group
- Year
- 2003
- Tongue
- English
- Weight
- 171 KB
- Volume
- 48
- Category
- Article
- ISSN
- 1435-232X
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## Abstract Abnormal folate/homocysteine metabolism due to polymorphisms in genes involved in this pathway has been implicated as an etiologic factor in Down syndrome (DS). This case–control study aimed to evaluate the effect of maternal C677T and A1298C polymorphisms of the methylenetetrahydrofola
## Abstract ## BACKGROUND: Methylenetetrahydrofolate reductase (__MTHFR__) of the folate metabolism pathway is a candidate gene for neural tube defects (NTDs). Frequency of the second common polymorphism, A1298C, in the __MTHFR__ gene is not well known in Mexico. Conflicting results exist regardin
A number of studies have demonstrated that the common polymorphism 677C→T in the gene encoding 5, 10-methylenetetrahydrofolate reductase (MTHFR) leads to a thermolabile variant with decreased enzyme activity and to mildly elevated plasma homocysteine. 677TT homozygosity was shown to be more frequent